Nickel R E, Pillers D A, Merkens M, Magenis R E, Driscoll D A, Emanuel B S, Zonana J
Department of Pediatrics, Oregon Health Sciences University, Portland.
Am J Med Genet. 1994 Oct 1;52(4):445-9. doi: 10.1002/ajmg.1320520410.
Approximately 5% of children with neural tube defects (NTDs) have a congenital heart defect and/or cleft lip and palate. The cause of isolated meningomyelocele, congenital heart defects, or cleft lip and palate has been largely thought to be multifactorial. However, chromosomal, teratogenic, and single gene causes of combinations of NTDs with congenital heart defects and/or cleft lip and palate have been reported. We report on 3 patients with meningomyelocele, congenital heart defects, and 22q11 deletions. Two of the children had the clinical diagnosis of velo-cardio-facial syndrome (VCFS); both also have bifid uvula. The third child had DiGeorge sequence (DGS). The association of NTDs with 22q11 deletions has not been reported previously. An accurate diagnosis of the 22q11 deletion is critical as this micro-deletion and its associated clinical problems is transmitted as an autosomal dominant trait due to the inheritance of the deletion-bearing chromosome. We recommend that all children with NTDs and congenital heart defects, with or without cleft palate, have cytogenetic and molecular studies performed to detect 22q11 deletions.
约5%的神经管缺陷（NTDs）患儿伴有先天性心脏病和/或唇腭裂。孤立性脊髓脊膜膨出、先天性心脏病或唇腭裂的病因在很大程度上被认为是多因素的。然而，已有报道称NTDs与先天性心脏病和/或唇腭裂合并存在的染色体、致畸和单基因病因。我们报告了3例患有脊髓脊膜膨出、先天性心脏病和22q11缺失的患者。其中两名儿童临床诊断为腭心面综合征（VCFS）；两人均有悬雍垂裂。第三名儿童患有DiGeorge综合征（DGS）。NTDs与22q11缺失的关联此前尚未见报道。准确诊断22q11缺失至关重要，因为这种微缺失及其相关临床问题会作为常染色体显性性状传递，原因是携带缺失的染色体的遗传。我们建议，所有患有NTDs和先天性心脏病的儿童，无论有无腭裂，都应进行细胞遗传学和分子研究以检测22q11缺失。
